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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HEPACAM
Single nucleotide variant
(splice acceptor variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
GLikely pathogenic
HEPACAM
Single nucleotide variant
(synonymous variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+3 more
GLikely benign
HEPACAM
(E162K)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+3 more
GUncertain significance
HEPACAM
(E32D)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
+3 more
GUncertain significance
HEPACAM
(R206C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HEPACAM
Deletion
(inframe_deletion)
not specified
+2 more
GUncertain significance
HEPACAM
(R73W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
HEPACAM
(M308V)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
GUncertain significance
HEPACAM
(P222L)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
GUncertain significance
HEPACAM
(V87I)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
+1 more
GConflicting classifications of pathogenicity
HEPACAM
(V47M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
HEPACAM
(I43N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
HEPACAM
(T205I)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
HEPACAM
(P148S)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
+1 more
GLikely pathogenic
HEPACAM
(V400M)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 1
+4 more
GUncertain significance
HEPACAM
Single nucleotide variant
(synonymous variant)
Megalencephalic leukoencephalopathy with subcortical cysts
+4 more
GBenign/Likely benign
HEPACAM
(M218V)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
+4 more
GBenign
HEPACAM
Single nucleotide variant
(synonymous variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
+4 more
GBenign
HEPACAM
(R92W)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HEPACAM
(G89S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
HEPACAM
(R98C)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
GPathogenic
HEPACAM
(D211N)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
GPathogenic
HEPACAM
(R92Q)
Single nucleotide variant
(missense variant)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
GPathogenic/Likely pathogenic
HEPACAM
Single nucleotide variant
(nonsense)
Megalencephalic leukoencephalopathy with subcortical cysts 2A
GPathogenic
HEPACAM
(S196Y)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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